Canonical Allele Identifier: CA396868768
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 1746155
ClinVar RCV Id: RCV002340805

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354643G>A , CM000678.2:g.81354643G>A GRCh38
NC_000016.9:g.81388248G>A , CM000678.1:g.81388248G>A GRCh37
NC_000016.8:g.79945749G>A NCBI36
NG_009007.1:g.44678G>A , LRG_242:g.44678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*229G>A ENSP00000498114.1:n.*229G>A
ENST00000648994.2:c.521G>A MANE Select ENSP00000497351.1:p.Ser174Asn
ENST00000650388.1:c.168-2142G>A ENSP00000498081.1:n.168-2142G>A
ENST00000674788.1:n.646G>A
ENST00000568107.2:c.521G>A ENSP00000476795.1:p.Ser174Asn
NM_022041.3:c.521G>A , LRG_242t1:c.521G>A NP_071324.1:p.Ser174Asn
XM_017023734.1:c.-119G>A XP_016879223.1:n.-119G>A
NM_001377486.1:c.-119G>A NP_001364415.1:n.-119G>A
NM_022041.4:c.521G>A MANE Select NP_071324.1:p.Ser174Asn